Search

The identification of new cryptic deletions and duplications can be used to improve prognostic classification in cancer. To obtain accurate results, it is necessary to discriminate between somatic alterations in the tumor cell and germline polymorphisms. For this purpose, copy number variation (CNV) public databases have been used as a reference. Nevertheless, the use of these databases may lead to erroneous results. Our main goal was to explore the limitations of the use of CNV databases, such as the Database of Genomic Variants (DGV), as the reference. To that end, we used pediatric acute lymphoblastic leukemia (ALL) as a model. We analyzed the genome-wide copy number profile of 23 ALL patients and conducted a comparison of the results obtained using the DGV with those obtained using the normal sample from the patient as the reference. Using only the DGV, 19% of alterations and 41% of polymorphisms were erroneously catalogued. Our results support the hypothesis that with the use of databases such as the DGV as the reference, a high percentage of the variations can be erroneously classified., (Copyright © 2014 Elsevier Inc. All rights reserved.)

The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status.

Agranulocytosis is one of the most serious side effects to drugs. From January 1991 to June 1996 were diagnosed 19 cases of agranulocytosis associated with drugs at our hospital (incidence rate: 9.4 over million hab. per year). The average age was 62 and 11 cases were women. The drugs most commonly involved were metamizol and ticlopidine. In 15 of the patients fever blew up and 16 presented some infectious location. In 9 of the cases some positive microbiological culture was obtained, gram-negative bacilli being the commonest. G-CSF was used in 13 of the patients, observing a quicker haematological recovery (5.7 days vs 9.1, p = 0.07), though without any difference in mortality, which was of 0%. All this leads to the following conclusions: a high incidence of agranulocytosis in our environment and the important role of metamizol and ticlopidine in its origin.

A child with AIDS is presented who developed L1-ALL while being treated for L3-AL. After achievement of complete remission of the former, he suffered a relapse with L3 morphology. Although the possibilities of a shift in both the morphology and the immunophenotype of ALL in relapse are well known, the rarity of L1-ALL in association with AIDS is stressed by the authors, along with the factors related with the morphologic and phenotypic changes shown by these patients.

Megaloblastic anaemia is very rare in the first weeks of life and it is related to impaired metabolism of folic acid or vitamin B12. One of this disorders is the congenital transcobalamin II deficiency. The case of a three month old infant, with vomiting, diarrhoea and severe anaemia is presented. Both parents and the child had very low or undetectable levels of serum TC II, respectively. Using i.m. hydroxycobalamin at high doses, the clinical and laboratory responses have been satisfactory.

The authors reviewed 92 patients diagnosed as ALL. Age range was 1 to 12 years (x = 5 years), 50 males and 42 females. The patients were classified as high risk, intermediate and low risk according to the following prognostic factors: sex, age at diagnosis, visceromegaly, adenopathy, initial WBC, HB, immunoglobulins, and platelets, FAB morphological classification, and bone marrow response to initial therapy, immunological markers, CNS infiltration and mediastinal mass. The previous factors were analyzed individually and also the results obtained with each risk group according to the treatment applied.